[3] phosphate is an essential mineral which plays a significant role in the formation and maintenance of bones and teeth, energy production and other important cellular processes.
[citation needed] Children with phosphate diabetes may start to walk late (at the age of one and a half years and later) due to impaired bone development.
[9] Children with phosphate diabetes may have a birth defect in which the bones in a baby's skull fuse together too early before the brain is fully formed.
[citation needed] phosphate diabetes is caused by a genetic mutation in the PHEX gene located on the X chromosome.
[citation needed] FGF23 acts on the intestines to reduce the expression of the sodium-phosphate co-transporter (NaPi-2b) in the brush border membrane of enterocytes,[20] which is an important site for nutrient absorption.
This results in a chronic systemic phosphate deficiency that may cause a variety of symptoms with varying degrees of intensity.
Doctors specialised in endocrinology and orthopaedics can examine the patient's health condition, and prescribe suitable medicine or arrange referral for further checking.
[citation needed] Since phosphate diabetes is an inheritable condition, immediate genetic analysis should be performed on a child after birth if one of the parents has been diagnosed with the disorder during childhood.
[citation needed] phosphate diabetes is a rare condition that affects approximately 1 in 20000-25000 individuals,[33] making it relatively difficult to study epidemiologically.
However, advances in genetic testing and improved awareness of the condition have led to increased diagnosis rates in recent years.
[citation needed] While phosphate diabetes can affect individuals of any race or ethnicity,[34] it is more common in certain populations, such as those of European and Middle Eastern descent.